Case report: Multiple app
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1. This channel is important for the normal repolarization of muscle action potentials and consequent rel…